1 | PIGK
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| Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
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| Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM
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| Am J Hum Genet. Apr 2;106(4):484-495. doi: 10.1016/j.ajhg.2020.03.001. Epub 2020 Mar 26 2020
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2 | GPAA1, PIGK, PIGS, PIGT, PIGU
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| Stability of the transamidase complex catalyzing GPI anchoring of proteins.
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| Kawaguchi K, Sato T, Kondo S, Yamamoto-Hino M, Goto S.
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| Biochem Biophys Res Commun. May 7;512(3):584-590. doi: 10.1016/j.bbrc.2019.03.103. Epub 2019 Mar 23 2019
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3 | PIGK
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| Disulfide Bond Formation and N-Glycosylation Modulate Protein-Protein Interactions in GPI-Transamidase (GPIT).
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| Yi L, Bozkurt G, Li Q, Lo S, Menon AK, Wu H.
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| Sci Rep. Apr 4;8:45912. doi: 10.1038/srep45912 2017
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4 | PIGK
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| Microsatellite polymorphism located immediately upstream of the phosphatidylinositol glycan, class K gene (PIGK) affects its expression, which correlates with tyrosinase activity in human melanocytes.
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| Okamura K, Hayashi M, Abe Y, Araki Y, Hozumi Y, Suzuki T.
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| J Dermatol Sci Feb;85(2):131-134. doi: 10.1016/j.jdermsci.2016.10.012. Epub 2016 Nov 27 2017
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5 | PIGK, PIGS
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| Structural insight into the glycosylphosphatidylinositol transamidase subunits PIG-K and PIG-S from yeast.
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| Toh YK, Kamariah N, Maurer-Stroh S, Roessle M, Eisenhaber F, Adhikari S, Eisenhaber B, Grüber G.
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| J Struct Biol. Feb;173(2):271-81. doi: 10.1016/j.jsb.2010.11.026. Epub 2010 Dec 4 2011
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6 | PIGK
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| Recent developments in the molecular, biochemical and functional characterization of GPI8 and the GPI-anchoring mechanism [review].
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| Zacks MA, Garg N.
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| Mol Membr Biol. May-Jun;23(3):209-25. doi: 10.1080/09687860600601494 2006
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7 | PIGK, PIGT
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| Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge.
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| Ohishi K, Nagamune K, Maeda Y, Kinoshita T.
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| J Biol Chem 278(16):13959-67. Epub 2003 Feb 11. 2003
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8 | GPAA1, PIGK
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| Structural requirements for the recruitment of Gaa1 into a functional glycosylphosphatidylinositol transamidase complex.
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| Vainauskas S, Maeda Y, Kurniawan H, Kinoshita T, Menon AK.
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| J Biol Chem 277(34):30535-42. Epub 2002 Jun 06. 2002
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9 | GABRA1, PIGK, PIGS, PIGT
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| PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8.
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| Ohishi K, Inoue N, Kinoshita T.
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| EMBO J 20(15):4088-98. 2001
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10 | PIGK
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| The affected gene underlying the class K glycosylphosphatidylinositol (GPI) surface protein defect codes for the GPI transamidase.
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| Yu J, Nagarajan S, Knez JJ, Udenfriend S, Chen R, Medof ME.
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| Proc Natl Acad Sci U S A 94(23):12580-5. 1997
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11 | PIGK
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| Yeast Gpi8p is essential for GPI anchor attachment onto proteins.
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| Benghezal M, et al.
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| EMBO J 15(23):6575-83. 1996
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